/genitopatellar syndrome

genitopatellar syndrome

Rare Disease

MONDO:0011640

Also Known As

absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndromegenitopatellar syndromeGENITOPATELLAR syndromeGTPTSabsent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disabilityabsent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation

Definition

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.